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Thomas B Friedman

Showing results (61-70 of 153) with videos related to

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Human Genetics|October 27, 2006
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid Y Khan, Saima Riazuddin, Muhammad Tariq, et al.
Elife|August 25, 2015
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearingQing Fang, Artur A Indzhykulian, Mirna Mustapha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsArti Pandya, Kathleen S Arnos, Xia J Xia, et al.
Journal of Medical Genetics|March 25, 2018
Inframe deletion of human <i>ESPN</i> is associated with deafness, vestibulopathy and vision impairmentZubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, et al.
The Journal of Biological Chemistry|February 8, 2007
Deafness and stria vascularis defects in S1P2 receptor-null miceMari Kono, Inna A Belyantseva, Athanasia Skoura, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, et al.
Pediatric Research|March 19, 2004
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora Brownstein, Tamar Ben-Yosef, Orit Dagan, et al.
Human Genetics|July 7, 2021
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin coresTakushi Miyoshi, Inna A Belyantseva, Shin-Ichiro Kitajiri, et al.
BMC Medical Genetics|February 11, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, et al.
Molecular Therapy. Methods & Clinical Development|April 16, 2025
AAV-mediated inner ear gene delivery triggers mild host immune responses in the mammalian inner earYasuko Ishibashi, Jianliang Zhu, Gwladys Gernoux, et al.
Pageof 16

Showing results (61-70 of 153) with videos related to

Sort By:
Pageof 16
Human Genetics|October 27, 2006
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid Y Khan, Saima Riazuddin, Muhammad Tariq, et al.
Elife|August 25, 2015
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearingQing Fang, Artur A Indzhykulian, Mirna Mustapha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsArti Pandya, Kathleen S Arnos, Xia J Xia, et al.
Journal of Medical Genetics|March 25, 2018
Inframe deletion of human <i>ESPN</i> is associated with deafness, vestibulopathy and vision impairmentZubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, et al.
The Journal of Biological Chemistry|February 8, 2007
Deafness and stria vascularis defects in S1P2 receptor-null miceMari Kono, Inna A Belyantseva, Athanasia Skoura, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, et al.
Pediatric Research|March 19, 2004
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora Brownstein, Tamar Ben-Yosef, Orit Dagan, et al.
Human Genetics|July 7, 2021
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin coresTakushi Miyoshi, Inna A Belyantseva, Shin-Ichiro Kitajiri, et al.
BMC Medical Genetics|February 11, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, et al.
Molecular Therapy. Methods & Clinical Development|April 16, 2025
AAV-mediated inner ear gene delivery triggers mild host immune responses in the mammalian inner earYasuko Ishibashi, Jianliang Zhu, Gwladys Gernoux, et al.
Pageof 16